How Does Haemophilia Affect the Human Body?
The circulatory system is a gift to the human body. We rely solely on the blood that flows in our bodies for our survival. It is very clear that without the right function of our circulatory system, we might not be able to live a healthy and proper life. This is why it is important to take good care of your heart and avoid any kind of problems and diseases.
The topic that we would be discussing through the article today is Haemophilia and everything related to it. Through this article, we will be taking a look at some of the major symptoms of Haemophilia, what can be done and what all do we know about the rare condition right now. The article has been written with the prime focus to make sure that students of all ages understand the content that is given here. We will be talking about some really important facts that are to be known about this rare condition, and everything associated with it as well.
This article is also focused on discussing the possible causes of the condition and what exactly happens to the body. The human body has a very strong defence mechanism when it comes to a lot of diseases however, in some cases like the ones like this, where the condition is so rare, the human body finds certain ways to let us know that it needs medical attention. This condition can have severe consequences if it is left untreated. The symptoms that it brings along with it are also very threatening and therefore, it requires immediate medical attention.
To make sure that students are getting the main core of the knowledge, we would suggest that they revisit this article, again and again, to make sure that you are understanding it fully and leaving no room for any confusion. Vedantu suggests that students also take notes while reading the article to highlight any important detail that they might stumble upon. Taking notes while reading the article can easily set you up for success in the topic as it will keep the content fresh in your memory. With that being said, we hope that this article helps you in understanding all details about Haemophilia.
Haemophilia Causes
The Haemophilia definition says that Haemophilia is a rare condition that influences the blood's capacity to clot. It's normally acquired. The vast majority who have it are male. Regularly, when you cut yourself, substances in your blood known as clotting factors blend in with blood cells called platelets to make your blood clingy and form a clot. This makes the bleeding stop in the long run. Individuals with Haemophilia don't have the same number of clotting factors as they ought to have in their blood. This implies they bleed for longer than expected. Haemophilia is a rare and genuine disease influencing approximately 1 out of 10,000 individuals around the globe. Numerous individuals with Haemophilia are as yet undiscovered or insufficiently rewarded. In any event, when rewarded, individuals may experience the ill effects of chronic pain and constrained mobility for the most part due to bleeds in the joints, and if undertreated or not rewarded by any means, the chance of dying at a young age. In this article, we will study Haemophilia, Haemophilia causes, and Haemophilia disorder symptoms.
Haemophilia Signs and Symptoms
Basic Haemophilia symptoms include
Bleeding into the joints. This can cause expansion and pain or snugness in the joints; it frequently influences the knees, elbows, and lower legs.
Bleeding into the skin (which is bruising) or muscle and delicate tissue causes the development of blood in the area (called a hematoma).
Bleeding of the mouth and gums, and bleeding that is difficult to stop in the wake of losing a tooth.
Bleeding after circumcision (medical procedure performed on male infants to evacuate the hood of skin, called the prepuce, covering the top of the penis).
Bleeding after having shots, for example, inoculations.
Bleeding on the top of a newborn child after a troublesome conveyance.
Blood in the pee or stool.
Visit and difficult to-stop nosebleeds.
All of these symptoms indicate the condition of Haemophilia. Again, one thing that must be kept into consideration is that you cannot rely on only these symptoms. If a person is showing any of these symptoms, then they are suggested to be taken to the nearest hospital for their treatment.
Haemophilia Causes and Effects
Let us learn about the Haemophilia causes first.
Haemophilia is brought about by a mutation or change, in one of the genes, that gives guidelines to making the clotting factor proteins expected to form a blood clot. This change or mutation can keep the clotting protein from working appropriately or to be missing inside and out. These genes are situated on the X chromosome. Males consist of one X and one Y chromosome which makes it XY and females consist of two X chromosomes which make it XX. Males acquire the X chromosome from their moms and the Y chromosome from their dads. Females acquire one X chromosome from each parent.
The X chromosome contains numerous genes that are absent on the Y chromosome. This implies males just have one copy of the majority of the genes on the X chromosome, though females have 2 copies. In this way, males can have a disease like Haemophilia if they acquire an influenced X chromosome that has a mutation in either the factor VIII or factor IX gene. Females can likewise have Haemophilia, however, this is a lot rarer. In such cases, both X chromosomes are influenced or one is influenced and the other is missing or inactive. In these females, bleeding symptoms might be like males with Haemophilia.
A female with one influenced X chromosome is a "transporter" of Haemophilia. Here and there a female who is a transporter can have symptoms of Haemophilia. Moreover, she can pass the influenced X chromosome with the clotting factor gene mutation onto her youngsters.
Final Thoughts
We hope that this article was able to teach you the importance of how our circulatory system tries and manages to improve our health. Haemophilia is a serious condition that needs immediate attention and a lot of care to prevent anything bad from happening. Vedantu offers many such articles on some of the most interesting topics that students must know about in and out of their syllabus. The entire article was written with the same goal in mind, to help students understand the condition better so that they can also answer questions like how and why this condition happens. As mentioned earlier, do not forget to revisit this article whenever you are planning to revise the content that you just studied. Revising the things that you study over and over can ensure that you remember things in the long run so that you can get great marks in the next exam. Thank you so much for reading this article and we hope that it was helpful!
FAQs on What Is Haemophilia? Causes, Signs, and Symptoms
1. What is haemophilia?
Haemophilia is a rare, inherited genetic bleeding disorder in which the blood does not clot properly. This is due to a deficiency or absence of specific blood-clotting proteins called clotting factors. As a result, individuals with haemophilia may experience prolonged bleeding after an injury, surgery, or even spontaneous bleeding without any apparent cause.
2. What are the main types of haemophilia and what causes them?
The two most common types of haemophilia are distinguished by the specific clotting factor that is deficient:
Haemophilia A (Classic Haemophilia): This is the most common type, caused by a deficiency in clotting factor VIII (FVIII).
Haemophilia B (Christmas Disease): This type is caused by a deficiency in clotting factor IX (FIX).
Both types are caused by mutations in the genes located on the X chromosome that are responsible for producing these clotting factors.
3. What are the common signs and symptoms of haemophilia?
The signs and symptoms of haemophilia vary depending on its severity but primarily involve excessive and prolonged bleeding. Common examples include:
Unexplained and excessive bruising.
Bleeding into the joints (hemarthrosis), which can cause swelling, pain, and stiffness, especially in the knees, elbows, and ankles.
Bleeding into the muscles, leading to pain and swelling.
Prolonged bleeding from cuts, injuries, or after surgery or dental procedures.
Frequent and hard-to-stop nosebleeds.
Blood in the urine (hematuria) or stool (melena).
4. Why is haemophilia more common in males than in females?
Haemophilia is an X-linked recessive disorder. The gene responsible for producing clotting factors VIII and IX is located on the X chromosome. Males have one X and one Y chromosome (XY), while females have two X chromosomes (XX). A male only needs to inherit one faulty X chromosome from his mother to have the condition. A female must inherit two faulty X chromosomes (one from each parent) to have haemophilia, which is extremely rare. Females with one faulty X chromosome are known as carriers and usually do not show severe symptoms but can pass the gene to their children.
5. What is the difference between acquired haemophilia and inherited haemophilia?
The primary difference lies in their cause. Inherited haemophilia is a genetic condition present from birth, caused by a faulty gene on the X chromosome passed down through families. In contrast, acquired haemophilia is a rare, non-genetic form that can develop later in life. It occurs when the body's immune system mistakenly produces antibodies that attack and destroy its own clotting factors, typically factor VIII. This is an autoimmune condition and is not passed on to children.
6. How does a deficiency in clotting factors lead to the symptoms of haemophilia?
Blood clotting is a complex process known as the coagulation cascade, involving a series of protein reactions. Clotting factors VIII and IX are crucial components of this cascade. When a blood vessel is injured, these factors are activated to help form a strong, stable fibrin clot that seals the vessel and stops bleeding. In haemophilia, the deficiency of these factors means the cascade is interrupted. A stable clot cannot be formed effectively, leading to prolonged bleeding, internal haemorrhages, and joint damage.
7. Can a father with haemophilia pass the condition to his son?
No, a father with haemophilia cannot pass the condition to his son. This is because haemophilia is an X-linked disorder. A father passes his Y chromosome to his sons and his X chromosome to his daughters. Since the haemophilia gene is on the X chromosome, he will pass the faulty gene to all of his daughters, making them carriers, but none of his sons will inherit the condition from him.
8. How is the severity of haemophilia diagnosed and classified?
Haemophilia is diagnosed through blood tests that measure the amount of clotting factor activity in the blood. The severity is classified based on the percentage of normal clotting factor activity:
Mild Haemophilia: 6% to 40% of normal clotting factor activity. Bleeding typically occurs only after serious injury or surgery.
Moderate Haemophilia: 1% to 5% of normal clotting factor activity. Bleeding may occur after minor injuries, and spontaneous bleeding can happen.
Severe Haemophilia: Less than 1% of normal clotting factor activity. Frequent spontaneous bleeding into joints and muscles is common.
